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IGH/BCL1 (CCND1) t(11;14) by FISH

Test Code

F BCL1; FP BCL1

Test Synonyms

t(11;14)(q13;q32), IGH/CCND1; Cyclin D1

Associations

B-cell lymphoma, Non-Hodgkin lymphoma (NHL), Mantle cell lymphoma (MCL)

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

F BCL1
2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min 2.0 mL) FNA in MPLN RPMI media

FP BCL1
10% neutral buffered formalin fixed paraffin embedded tissue

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA stable at 2-8°C for 72 hours
FFPE stable indefinitely
Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue, FNA or paraffin embedded tissue, ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative

Reference Range

FISH results indicate whether translocation is present or absent. A normal signal pattern results in two orange signals and two green signals. A t(11;14) results in a signal pattern of two orange/green (yellow) fusions, one on each of the abnormal chromosomes 11 and 14 and single orange and green signals from the normal chromosomes.

Description

Mantle cell lymphoma can be difficult to distinguish morphologically from other B-cell malignant lymphomas. The translocation probe is designed to detect the juxtaposition of the IGH locus (14q32) next to the CCND1 (cyclin D1) gene (11q13) in both metaphase and interphase nuclei. This altered location of the IGH locus is thought to cause over expression of cyclin D1 in mantle cell lymphomas.

The t(11;14)(q13;q32) can be detected in approximately 95% of mantle cell lymphomas by FISH analysis. In contrast, PCR can detect the t(11;14) in 30-60% of cases, chromosome analysis can detect up to 70%, and Southern blot up to 50% of the translocations. This assay is an excellent alternative to immunoperoxidase detection of cyclin D1 over expression.

References
  1. Gu et al. (2004). Evaluation of peripheral blood involvement of mantle cell lymphoma by fluorescence in situ hybridization in comparison with immunophenotypic and morphologic findings. Mod Pathol. 17(5):553.
  2. Sun et al. (2003). Fluorescence in situ hybridization: method of choice for a definitive diagnosis of mantle cell lymphoma. Am J Hematol. 74(1):78.
  3. Li et al. (1999). Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization. Am. J. Pathology. 154:51449.
  4. Kluin et al. (1997). FISH and related techniques in the diagnosis of lymphoma. Cancer Surv. 30:3.